Autosomal recessive mutations in the PARK7 gene,which encodes for the protein DJ-1,result in a loss of function and are a cause of familial Parkinson’s disease(PD),while increased wild-type DJ-1protein levels are a...Autosomal recessive mutations in the PARK7 gene,which encodes for the protein DJ-1,result in a loss of function and are a cause of familial Parkinson’s disease(PD),while increased wild-type DJ-1protein levels are associated with some forms of cancer.Several functions of DJ-1 have been described,with the greatest evidence indicating that DJ-1 is a redox-sensitive protein involved in the regulation of oxidative stress and cell survival.展开更多
Hutchinson-Gilford progeria syndrome(HGPS,OMIM176670)is an extremely rare,sporadic genetic syndrome with a reported prevalence of one in4-8million children worldwide.At April2012,the total number of known living child...Hutchinson-Gilford progeria syndrome(HGPS,OMIM176670)is an extremely rare,sporadic genetic syndrome with a reported prevalence of one in4-8million children worldwide.At April2012,the total number of known living children with HGPS was89worldwide,according to data from the Progeria Research Foundation.展开更多
基金funded by a Medical Research Council(UK)Experimental Medicine grant[MR/M006646/1]
文摘Autosomal recessive mutations in the PARK7 gene,which encodes for the protein DJ-1,result in a loss of function and are a cause of familial Parkinson’s disease(PD),while increased wild-type DJ-1protein levels are associated with some forms of cancer.Several functions of DJ-1 have been described,with the greatest evidence indicating that DJ-1 is a redox-sensitive protein involved in the regulation of oxidative stress and cell survival.
文摘Hutchinson-Gilford progeria syndrome(HGPS,OMIM176670)is an extremely rare,sporadic genetic syndrome with a reported prevalence of one in4-8million children worldwide.At April2012,the total number of known living children with HGPS was89worldwide,according to data from the Progeria Research Foundation.